Incidental Mutation 'R7524:Frmpd1'
| ID |
582830 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Frmpd1
|
| Ensembl Gene |
ENSMUSG00000035615 |
| Gene Name |
FERM and PDZ domain containing 1 |
| Synonyms |
|
| MMRRC Submission |
045596-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7524 (G1)
|
| Quality Score |
125.008 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
45184875-45285936 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 45271181 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 304
(S304T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047232
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044773]
[ENSMUST00000107804]
|
| AlphaFold |
A2AKB4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044773
AA Change: S304T
PolyPhen 2
Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000047232
Gene: ENSMUSG00000035615
AA Change: S304T
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
67 |
135 |
5.72e-10 |
SMART |
|
B41
|
177 |
401 |
4.85e-30 |
SMART |
|
low complexity region
|
523 |
537 |
N/A |
INTRINSIC |
|
low complexity region
|
578 |
597 |
N/A |
INTRINSIC |
|
PDB:4G2V|B
|
901 |
938 |
2e-15 |
PDB |
|
low complexity region
|
962 |
980 |
N/A |
INTRINSIC |
|
low complexity region
|
1019 |
1030 |
N/A |
INTRINSIC |
|
low complexity region
|
1115 |
1130 |
N/A |
INTRINSIC |
|
Blast:B41
|
1264 |
1488 |
3e-44 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107804
AA Change: S304T
PolyPhen 2
Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000103434
Gene: ENSMUSG00000035615
AA Change: S304T
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
67 |
135 |
5.72e-10 |
SMART |
|
B41
|
177 |
401 |
4.85e-30 |
SMART |
|
low complexity region
|
523 |
537 |
N/A |
INTRINSIC |
|
low complexity region
|
578 |
597 |
N/A |
INTRINSIC |
|
PDB:4G2V|B
|
901 |
938 |
2e-15 |
PDB |
|
low complexity region
|
962 |
980 |
N/A |
INTRINSIC |
|
low complexity region
|
1019 |
1030 |
N/A |
INTRINSIC |
|
low complexity region
|
1115 |
1130 |
N/A |
INTRINSIC |
|
Blast:B41
|
1264 |
1488 |
3e-44 |
BLAST |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (79/79) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam29 |
C |
T |
8: 56,325,395 (GRCm39) |
C353Y |
probably damaging |
Het |
| Afap1l2 |
T |
A |
19: 56,906,543 (GRCm39) |
E452V |
probably damaging |
Het |
| Ak6 |
A |
G |
13: 100,800,415 (GRCm39) |
D45G |
probably benign |
Het |
| Arhgap17 |
G |
A |
7: 122,905,643 (GRCm39) |
P334L |
probably damaging |
Het |
| Asns |
G |
T |
6: 7,677,259 (GRCm39) |
|
probably null |
Het |
| Bend7 |
A |
G |
2: 4,804,791 (GRCm39) |
T424A |
probably benign |
Het |
| Btbd2 |
C |
T |
10: 80,482,278 (GRCm39) |
E241K |
probably damaging |
Het |
| Commd2 |
A |
C |
3: 57,557,569 (GRCm39) |
L99W |
probably damaging |
Het |
| Cpne9 |
A |
T |
6: 113,279,025 (GRCm39) |
D473V |
probably damaging |
Het |
| Cuzd1 |
A |
T |
7: 130,913,347 (GRCm39) |
F423L |
probably damaging |
Het |
| Cyp2d9 |
T |
C |
15: 82,340,146 (GRCm39) |
F390L |
probably damaging |
Het |
| Dcaf5 |
T |
A |
12: 80,423,470 (GRCm39) |
Q234L |
probably benign |
Het |
| Dennd3 |
T |
G |
15: 73,396,095 (GRCm39) |
Y201* |
probably null |
Het |
| Dnah17 |
T |
C |
11: 118,012,307 (GRCm39) |
D485G |
probably benign |
Het |
| Dnah5 |
A |
T |
15: 28,297,212 (GRCm39) |
T1469S |
possibly damaging |
Het |
| Dnah6 |
T |
C |
6: 73,095,082 (GRCm39) |
D2167G |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,330,974 (GRCm39) |
V4921A |
possibly damaging |
Het |
| Ephb2 |
A |
G |
4: 136,387,020 (GRCm39) |
Y736H |
probably damaging |
Het |
| Eri2 |
C |
G |
7: 119,384,972 (GRCm39) |
V510L |
probably benign |
Het |
| Eya2 |
G |
A |
2: 165,611,246 (GRCm39) |
|
probably null |
Het |
| Fastkd5 |
G |
T |
2: 130,458,048 (GRCm39) |
Q181K |
probably benign |
Het |
| Fcgbp |
T |
C |
7: 27,802,391 (GRCm39) |
S1440P |
probably damaging |
Het |
| Fkbp9 |
G |
A |
6: 56,845,725 (GRCm39) |
V354M |
probably damaging |
Het |
| Gtf2a2 |
T |
A |
9: 69,922,629 (GRCm39) |
Y3* |
probably null |
Het |
| Hagh |
G |
A |
17: 25,080,314 (GRCm39) |
V226I |
probably benign |
Het |
| Hemk1 |
T |
A |
9: 107,205,484 (GRCm39) |
I293F |
probably benign |
Het |
| Kcna3 |
A |
G |
3: 106,944,523 (GRCm39) |
E262G |
probably damaging |
Het |
| Kcnt2 |
A |
T |
1: 140,511,793 (GRCm39) |
T983S |
probably damaging |
Het |
| Klhdc3 |
A |
T |
17: 46,989,340 (GRCm39) |
H7Q |
probably damaging |
Het |
| Knl1 |
A |
T |
2: 118,896,460 (GRCm39) |
Q94L |
probably damaging |
Het |
| Krt12 |
T |
C |
11: 99,310,485 (GRCm39) |
D224G |
probably damaging |
Het |
| Lats1 |
T |
A |
10: 7,577,742 (GRCm39) |
S289T |
possibly damaging |
Het |
| Man2a2 |
G |
C |
7: 80,018,613 (GRCm39) |
A82G |
probably benign |
Het |
| Map1a |
G |
A |
2: 121,120,293 (GRCm39) |
V60M |
probably damaging |
Het |
| Mms22l |
T |
A |
4: 24,536,138 (GRCm39) |
F536I |
possibly damaging |
Het |
| Ms4a14 |
T |
C |
19: 11,281,200 (GRCm39) |
T453A |
unknown |
Het |
| Muc3a |
A |
C |
5: 137,245,020 (GRCm39) |
I151S |
probably benign |
Het |
| Myorg |
C |
A |
4: 41,498,779 (GRCm39) |
V284L |
probably benign |
Het |
| Oaf |
G |
A |
9: 43,134,077 (GRCm39) |
R215C |
probably damaging |
Het |
| Or4c112 |
T |
A |
2: 88,854,315 (GRCm39) |
I11L |
probably benign |
Het |
| Or4c125 |
A |
G |
2: 89,170,221 (GRCm39) |
C142R |
probably benign |
Het |
| Or4e5 |
T |
C |
14: 52,727,750 (GRCm39) |
I224V |
probably damaging |
Het |
| Or5ar1 |
T |
A |
2: 85,671,701 (GRCm39) |
M145L |
probably benign |
Het |
| Or6z7 |
T |
C |
7: 6,483,586 (GRCm39) |
N190D |
probably benign |
Het |
| Or7a42 |
T |
A |
10: 78,791,325 (GRCm39) |
Y95* |
probably null |
Het |
| Pcdhgb4 |
A |
T |
18: 37,854,661 (GRCm39) |
D352V |
probably benign |
Het |
| Pced1a |
A |
G |
2: 130,263,948 (GRCm39) |
F235L |
probably benign |
Het |
| Pclo |
A |
G |
5: 14,728,317 (GRCm39) |
I2392V |
unknown |
Het |
| Pld1 |
A |
T |
3: 28,078,470 (GRCm39) |
D43V |
possibly damaging |
Het |
| Ppp1r1b |
C |
A |
11: 98,241,720 (GRCm39) |
A51D |
possibly damaging |
Het |
| Prr23a1 |
T |
A |
9: 98,724,917 (GRCm39) |
L93H |
probably damaging |
Het |
| Psg20 |
T |
C |
7: 18,418,584 (GRCm39) |
D61G |
probably benign |
Het |
| Rab40b |
T |
A |
11: 121,278,878 (GRCm39) |
I31F |
probably damaging |
Het |
| Rasd2 |
T |
C |
8: 75,948,709 (GRCm39) |
F212L |
probably benign |
Het |
| Rbl2 |
A |
G |
8: 91,841,821 (GRCm39) |
I1006V |
probably benign |
Het |
| Sema6c |
A |
G |
3: 95,074,371 (GRCm39) |
E59G |
probably benign |
Het |
| Slc22a2 |
G |
T |
17: 12,824,944 (GRCm39) |
V269L |
possibly damaging |
Het |
| Slc2a1 |
C |
T |
4: 118,989,809 (GRCm39) |
P149S |
probably damaging |
Het |
| Smad4 |
T |
G |
18: 73,808,942 (GRCm39) |
E108D |
probably damaging |
Het |
| Sorbs2 |
T |
A |
8: 46,248,693 (GRCm39) |
I648K |
probably benign |
Het |
| Suclg1 |
A |
T |
6: 73,240,824 (GRCm39) |
I118F |
probably damaging |
Het |
| Tasor |
T |
A |
14: 27,188,160 (GRCm39) |
C869S |
probably damaging |
Het |
| Tet2 |
A |
G |
3: 133,185,990 (GRCm39) |
I1149T |
probably benign |
Het |
| Tfr2 |
T |
A |
5: 137,569,751 (GRCm39) |
Y82* |
probably null |
Het |
| Tfr2 |
G |
T |
5: 137,581,751 (GRCm39) |
V613L |
probably benign |
Het |
| Tg |
A |
T |
15: 66,568,010 (GRCm39) |
M1305L |
probably benign |
Het |
| Tmem176a |
A |
T |
6: 48,821,039 (GRCm39) |
M170L |
probably benign |
Het |
| Trim71 |
T |
C |
9: 114,342,230 (GRCm39) |
N684S |
probably benign |
Het |
| Tspan9 |
A |
G |
6: 127,942,214 (GRCm39) |
I212T |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,773,319 (GRCm39) |
V2361A |
possibly damaging |
Het |
| Uqcrc1 |
C |
T |
9: 108,765,827 (GRCm39) |
T14M |
possibly damaging |
Het |
| Vmn2r11 |
T |
C |
5: 109,201,848 (GRCm39) |
I219V |
probably benign |
Het |
| Vmn2r76 |
T |
C |
7: 85,874,577 (GRCm39) |
H800R |
probably benign |
Het |
| Vmn2r76 |
C |
T |
7: 85,879,374 (GRCm39) |
G309R |
probably benign |
Het |
| Xpc |
A |
T |
6: 91,476,513 (GRCm39) |
C529S |
probably benign |
Het |
| Zfp455 |
T |
A |
13: 67,355,688 (GRCm39) |
S254T |
possibly damaging |
Het |
| Zfp746 |
T |
C |
6: 48,041,823 (GRCm39) |
H301R |
possibly damaging |
Het |
| Zyg11a |
A |
T |
4: 108,049,271 (GRCm39) |
I490N |
probably damaging |
Het |
|
| Other mutations in Frmpd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00095:Frmpd1
|
APN |
4 |
45,279,456 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
IGL01678:Frmpd1
|
APN |
4 |
45,243,717 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01815:Frmpd1
|
APN |
4 |
45,284,239 (GRCm39) |
missense |
probably benign |
|
|
IGL02305:Frmpd1
|
APN |
4 |
45,249,209 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02347:Frmpd1
|
APN |
4 |
45,270,023 (GRCm39) |
splice site |
probably null |
|
|
IGL02586:Frmpd1
|
APN |
4 |
45,285,160 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02704:Frmpd1
|
APN |
4 |
45,285,082 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL02942:Frmpd1
|
APN |
4 |
45,285,493 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03353:Frmpd1
|
APN |
4 |
45,261,926 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03355:Frmpd1
|
APN |
4 |
45,279,140 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03401:Frmpd1
|
APN |
4 |
45,284,383 (GRCm39) |
missense |
probably benign |
0.28 |
|
IGL03047:Frmpd1
|
UTSW |
4 |
45,283,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0094:Frmpd1
|
UTSW |
4 |
45,284,899 (GRCm39) |
nonsense |
probably null |
|
|
R0103:Frmpd1
|
UTSW |
4 |
45,229,884 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0103:Frmpd1
|
UTSW |
4 |
45,229,884 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0109:Frmpd1
|
UTSW |
4 |
45,279,340 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0109:Frmpd1
|
UTSW |
4 |
45,279,340 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0375:Frmpd1
|
UTSW |
4 |
45,284,196 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0508:Frmpd1
|
UTSW |
4 |
45,284,938 (GRCm39) |
missense |
unknown |
|
|
R0524:Frmpd1
|
UTSW |
4 |
45,283,774 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0524:Frmpd1
|
UTSW |
4 |
45,256,902 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0625:Frmpd1
|
UTSW |
4 |
45,284,055 (GRCm39) |
missense |
probably benign |
|
|
R0825:Frmpd1
|
UTSW |
4 |
45,285,394 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0926:Frmpd1
|
UTSW |
4 |
45,268,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0975:Frmpd1
|
UTSW |
4 |
45,279,000 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1465:Frmpd1
|
UTSW |
4 |
45,273,197 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1465:Frmpd1
|
UTSW |
4 |
45,273,197 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1573:Frmpd1
|
UTSW |
4 |
45,283,932 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1938:Frmpd1
|
UTSW |
4 |
45,283,711 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2334:Frmpd1
|
UTSW |
4 |
45,285,408 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2413:Frmpd1
|
UTSW |
4 |
45,278,969 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2760:Frmpd1
|
UTSW |
4 |
45,244,667 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R3856:Frmpd1
|
UTSW |
4 |
45,283,698 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3876:Frmpd1
|
UTSW |
4 |
45,284,093 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4080:Frmpd1
|
UTSW |
4 |
45,284,382 (GRCm39) |
missense |
probably benign |
|
|
R4597:Frmpd1
|
UTSW |
4 |
45,274,441 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4714:Frmpd1
|
UTSW |
4 |
45,284,785 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4779:Frmpd1
|
UTSW |
4 |
45,229,865 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4957:Frmpd1
|
UTSW |
4 |
45,273,099 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5000:Frmpd1
|
UTSW |
4 |
45,261,931 (GRCm39) |
splice site |
probably null |
|
|
R5041:Frmpd1
|
UTSW |
4 |
45,278,878 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5228:Frmpd1
|
UTSW |
4 |
45,284,322 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5413:Frmpd1
|
UTSW |
4 |
45,249,196 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5560:Frmpd1
|
UTSW |
4 |
45,243,697 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6133:Frmpd1
|
UTSW |
4 |
45,284,915 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6158:Frmpd1
|
UTSW |
4 |
45,285,401 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6329:Frmpd1
|
UTSW |
4 |
45,268,551 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6338:Frmpd1
|
UTSW |
4 |
45,274,489 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6544:Frmpd1
|
UTSW |
4 |
45,279,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6728:Frmpd1
|
UTSW |
4 |
45,284,664 (GRCm39) |
missense |
probably benign |
|
|
R6748:Frmpd1
|
UTSW |
4 |
45,274,397 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6798:Frmpd1
|
UTSW |
4 |
45,284,850 (GRCm39) |
missense |
probably benign |
0.17 |
|
R6828:Frmpd1
|
UTSW |
4 |
45,275,383 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7002:Frmpd1
|
UTSW |
4 |
45,284,200 (GRCm39) |
missense |
probably benign |
|
|
R7258:Frmpd1
|
UTSW |
4 |
45,269,974 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R7295:Frmpd1
|
UTSW |
4 |
45,285,700 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7382:Frmpd1
|
UTSW |
4 |
45,278,880 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7423:Frmpd1
|
UTSW |
4 |
45,256,948 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7451:Frmpd1
|
UTSW |
4 |
45,279,558 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7492:Frmpd1
|
UTSW |
4 |
45,285,237 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7610:Frmpd1
|
UTSW |
4 |
45,279,098 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7719:Frmpd1
|
UTSW |
4 |
45,284,841 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R7724:Frmpd1
|
UTSW |
4 |
45,229,888 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7891:Frmpd1
|
UTSW |
4 |
45,284,478 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8010:Frmpd1
|
UTSW |
4 |
45,284,272 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R8260:Frmpd1
|
UTSW |
4 |
45,244,638 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8528:Frmpd1
|
UTSW |
4 |
45,285,034 (GRCm39) |
missense |
probably benign |
|
|
R8794:Frmpd1
|
UTSW |
4 |
45,279,632 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8798:Frmpd1
|
UTSW |
4 |
45,285,424 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8954:Frmpd1
|
UTSW |
4 |
45,284,702 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9058:Frmpd1
|
UTSW |
4 |
45,283,948 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9178:Frmpd1
|
UTSW |
4 |
45,285,367 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9281:Frmpd1
|
UTSW |
4 |
45,284,127 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9408:Frmpd1
|
UTSW |
4 |
45,279,182 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9532:Frmpd1
|
UTSW |
4 |
45,278,886 (GRCm39) |
missense |
|
|
|
Z1088:Frmpd1
|
UTSW |
4 |
45,284,080 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
Z1177:Frmpd1
|
UTSW |
4 |
45,275,272 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATGTAACTCAGGTCACAGAGC -3'
(R):5'- AGTATCGGCTTTCTCTGGAGTC -3'
Sequencing Primer
(F):5'- AGAGCCAAGTCCTCAGAGCTG -3'
(R):5'- TCTGGAGTCTGGCCATCCTG -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation